Parent
|
Gene
|
Variant
|
Blood
|
Buccal
|
Saliva
|
Urine
|
Hair
|
Nails
|
---|
ES (%)
|
PCR NGS (%)
|
ddPCR
|
PCR NGS
|
ddPCR
|
PCR NGS
|
ddPCR
|
PCR NGS
|
ddPCR
|
PCR NGS
|
PCR NGS
|
---|
M1
|
USP7
|
c.238A > T
|
3
|
9
|
2.13%
|
1%
|
0.3%
|
8%
|
4.78%
|
2%
|
0.86%
|
0.03%
|
5%
|
M2
|
PTPN11
|
c.923A > G
|
1
|
0.3
|
ND
|
0.21%
|
ND
|
0.1%
|
NT
|
0.22%
|
NT
|
0.15%
|
NA
|
M3
|
PTPN11
|
c.923A > G
|
1
|
0.3
|
DEG
|
0.2%
|
ND
|
0.2%
|
NT
|
0.2%
|
NT
|
NA
|
NA
|
M4
|
COL11A1
|
c.3816 + 2dupT
|
2.8
|
0.2 (HC)
|
ND
|
ND
|
ND
|
ND
|
DEG
|
ND
|
ND
|
ND
|
ND
|
M5
|
CACNA1C
|
c.694G > C
|
1
|
2
|
ND
|
ND
|
ND
|
ND
|
0.2%
|
ND
|
0.2%
|
0.05%
|
ND
|
- HC GATK haplotype caller, NA not accountable, ND not detectable, NT not tested, DEG degraded DNA